Results 51 to 60 of about 17,499 (218)

Análisis multidisciplinar de la osteogénesis imperfecta

, 2017
Imperfect osteogenesis is a hereditary disease that causes a deficit in the formation of type I collagen. The management of osteogenesis imperfecta must be multidisciplinary, pharmacological, physical, surgical and psychological treatments and therapies ...
Gimbel Benítez, S.; Universidad Complutense de Madrid, Broch Michavila, A.; Universidad Complutense de Madrid, Seguiel Correa, F.; Universidad Complutense de Madrid, Arráez Aybar, L.A.; Universidad Complutense de Madrid   +3 more
core   +1 more source

Quantification of SARM1 NADase Activity in Human Peripheral Blood Mononuclear Cells

The FASEB Journal, Volume 40, Issue 9, 15 May 2026.
Proposed model for NAD+ metabolism in (A) control and (B) SARM1 activated PBMCs. In native form, 3‐AP and Vacor compete with NAM as an alternative substrate for NAMPT. This consequently decreases generation of NMN and biosynthesis of NAD+ is limited by both a reduction in precursor NMN and direct inhibition of NMNAT by Vacor‐MN and 3‐AP‐MN.
Lila F. Dabill, Ivana R. Shen, Jennifer M. Brazill, Alicia Neiner, Yo Sasaki, Erica L. Scheller   +5 more
wiley   +1 more source

Assessing Access to Orthopaedic Care for Patients With Osteogenesis Imperfecta

Graduate Medical Education Research Journal
Background: Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth.
Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace   +6 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Mandibular Radiographic Assessment in Sickle Cell Disease: A Systematic Review of Radiomorphometric Indices and Fractal Dimension

Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.
ABSTRACT Aim This systematic review aimed to investigate the association between sickle cell disease (SCD) and reduced bone mineral density (BMD) using radiomorphometric indices (RMI) and fractal dimension analysis (FDA) on dental radiographic images.
Diego Belmiro do Nascimento Santos, Bruna Cristina Oliveira dos Santos, Larissa Conrado da Silva, Márcia Pereira Alves dos Santos, Luciana Munhoz, Bruno Augusto Benevenuto de Andrade, Jefferson R. Tenório   +6 more
wiley   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 777-789, April 2026.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Osteogenesis imperfecta and pregnancy: a case report

Journal of Medical Case Reports, 2019
Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus.
Felix Chamunyonga, Kudzaishe Lloyd Masendeke, Bismark Mateveke   +2 more
doaj   +1 more source

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Педиатрическая фармакология, 2019
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes.
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov   +5 more
doaj   +1 more source

Osobitosti anestezije kod ortopedskih zahvata u bolesnika s osteogenesis imperfecta [Characteristics of anesthesia in patients with osteogenesis imperfecta undergoing orthopedic surgical procedures] [PDF]

, 2014
The aim is to show our experience in anesthesia of patients with osteogenesis imperfecta (OI) who have undergone orthopedic surgical procedures. This is a retrospective analysis of OI patients treated at our Department from 1980 to 2012.
Buljan, Melita, Orešković, Zrinka, Kubat, Ozren, Antičević, Darko, Tripković, Branko, Jakovina-Blažeković, Sanja   +5 more
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